Canonical Allele Identifier: CA2609138468

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49482660-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49482660A>G , CM000672.2:g.49482660A>G	GRCh38
NC_000010.10:g.50690706A>G , CM000672.1:g.50690706A>G	GRCh37
NC_000010.9:g.50360712A>G	NCBI36
NG_009442.1:g.61442T>C , LRG_465:g.61442T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2169+27T>C MANE Select	ENSP00000348089.5:n.2169+27T>C
ENST00000681632.1:n.2247+27T>C
ENST00000681659.1:c.2010+27T>C	ENSP00000505631.1:n.2010+27T>C
ENST00000355832.9:c.2169+27T>C	ENSP00000348089.5:n.2169+27T>C
ENST00000623073.3:c.*561+27T>C	ENSP00000485650.1:n.*561+27T>C
ENST00000623115.3:c.279+27T>C	ENSP00000485321.1:n.279+27T>C
NM_000124.3:c.2169+27T>C	NP_000115.1:n.2169+27T>C
NM_001346440.1:c.2169+27T>C	NP_001333369.1:n.2169+27T>C
NM_000124.4:c.2169+27T>C MANE Select	NP_000115.1:n.2169+27T>C
NM_001346440.2:c.2169+27T>C	NP_001333369.1:n.2169+27T>C